{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,25]],"date-time":"2026-03-25T12:32:40Z","timestamp":1774441960014,"version":"3.50.1"},"reference-count":14,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,4,13]],"date-time":"2021-04-13T00:00:00Z","timestamp":1618272000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2021,4,13]],"date-time":"2021-04-13T00:00:00Z","timestamp":1618272000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Universit\u00e4tsklinikum D\u00fcsseldorf. Anstalt \u00f6ffentlichen Rechts"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Cardiovasc Disord"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Autopsies regularly aim to clarify the cause of death; however, relatives may directly benefit from autopsy results in the setting of heritable traits (\u201cmortui vivos docent\u201d).<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>A case of a sudden unexpected cardiac death of a 5.5-months-old child is presented. Autopsy and thorough postmortem cardiac examinations revealed a massively enlarged heart with endomyocardial fibroelastosis. Postmortem molecular testing (molecular autopsy) revealed an unusual combination of two biparental <jats:italic>MYBPC3<\/jats:italic> gene mutations likely to underlie the cardiac abnormalities. Thus, the molecular autoptic findings also had consequences for the relatives of the deceased child and impact on further family planning.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>The presented case highlights the need for clinical autopsies including cardiac examinations and postmortem molecular testing; it also paves the way for further cascade screening of family members for cardiac disease, if a distinct genetic disorder is suspected.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12872-021-01977-9","type":"journal-article","created":{"date-parts":[[2021,4,13]],"date-time":"2021-04-13T13:14:14Z","timestamp":1618319654000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A rare cause of sudden unexpected death syndrome (SUDS) in the first year of life: endomyocardial fibroelastosis (EFE) due to two compound heterozygous MYBPC3 mutations"],"prefix":"10.1186","volume":"21","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1975-3320","authenticated-orcid":false,"given":"Benno","family":"Hartung","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"Tank","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sven","family":"Dittmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefanie","family":"Ritz-Timme","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric","family":"Schulze-Bahr","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,4,13]]},"reference":[{"key":"1977_CR1","unstructured":"Benivieni A (1507) De abditis nonnullis ac mirandis morborum et sanationum causis, Filippo Giunti, Florence"},{"key":"1977_CR2","unstructured":"Boerhaave H (1751) Opera Omnia complectentia. Atrocis, nec descripti prius, morbihistoria: 387\u2013404, Venice, Laurentius Basilius"},{"key":"1977_CR3","doi-asserted-by":"publisher","DOI":"10.7326\/M20-200","author":"D Wichmann","year":"2020","unstructured":"Wichmann D, Sperhake JP, L\u00fctgehetmann M, Steurer S, Edler C, Heinemann A, Heinrich F, Mushumba H, Kniep I, Schr\u00f6der AS, Burdelski C. Autopsy findings and venous thromboembolism in patients with COVID-19: a prospective cohort study. Ann Intern Med. 2020. https:\/\/doi.org\/10.7326\/M20-200.","journal-title":"Ann Intern Med"},{"issue":"6","key":"1977_CR4","doi-asserted-by":"publisher","first-page":"1835","DOI":"10.1007\/s00414-019-02117-x","volume":"133","author":"N Mahlke","year":"2019","unstructured":"Mahlke N, Dittmann S, Schulze-Bahr E, Ritz-Timme S, Hartung B. Sudden unexpected cardiac death and postmortem identification of a novel RYR2 gene mutation. Int J Legal Med. 2019;133(6):1835\u20138.","journal-title":"Int J Legal Med"},{"issue":"4","key":"1977_CR5","first-page":"41","volume":"2009","author":"S Kauferstein","year":"2009","unstructured":"Kauferstein S, Kiehne N, Neumann T, Pitschner H-F, Bratzke H. Cardiac gene defects can cause sudden cardiac death in young people. Deutsches \u00c4rzteblatt Int. 2009;2009(4):41\u20137.","journal-title":"Deutsches \u00c4rzteblatt Int"},{"key":"1977_CR6","doi-asserted-by":"crossref","unstructured":"Kayser K (1985) Entwicklung der Herzgewichte im Sektionsgut 1900\u20131979. In Herzhypertrophie (pp. 71\u201381). Springer, Berlin.","DOI":"10.1007\/978-3-642-82583-5_7"},{"issue":"2","key":"1977_CR7","doi-asserted-by":"publisher","first-page":"257","DOI":"10.1136\/hrt.2004.040337","volume":"91","author":"SE Hughe","year":"2005","unstructured":"Hughe SE, McKenna WJ. New insights into the pathology of inherited cardiomyopathy. Heart. 2005;91(2):257\u201364.","journal-title":"Heart"},{"key":"1977_CR8","unstructured":"Cogswel, R, Schiller NB, Acquatella H (2016) Endomyocardial fibrosis. https:\/\/www.uptodate.com\/contents\/endomyocardial-fibrosis. Accessed 05 Dec 2020."},{"issue":"1","key":"1977_CR9","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1016\/0002-8703(68)90122-1","volume":"75","author":"DH Connor","year":"1968","unstructured":"Connor DH, Somers K, Hutt MS, Manion WC, D\u2019Arbela PG. Endomyocardial fibrosis in Uganda (Davies\u2019 disease). Part II: an epidemiologic, clinical, and pathologic study. Am Heart J. 1968;75(1):107\u201324.","journal-title":"Am Heart J"},{"issue":"1","key":"1977_CR10","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1056\/NEJMoa0708629","volume":"359","author":"AO Mocumbi","year":"2008","unstructured":"Mocumbi AO, Ferreira MB, Sidi D, Yacoub MH. A population study of endomyocardial fibrosis in a rural area of Mozambique. N Engl J Med. 2008;359(1):43\u20139.","journal-title":"N Engl J Med"},{"key":"1977_CR11","doi-asserted-by":"publisher","first-page":"101","DOI":"10.1016\/j.yjmcc.2020.10.003","volume":"150","author":"L Carrier","year":"2020","unstructured":"Carrier L. Targeting the population for gene therapy with MYBPC3. J Mol Cell Cardiol. 2020;150:101\u20138.","journal-title":"J Mol Cell Cardiol"},{"issue":"1","key":"1977_CR12","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1038\/ncomms6515","volume":"5","author":"G Mearini","year":"2014","unstructured":"Mearini G, Stimpel D, Geertz B, Weinberger F, Kr\u00e4mer E, Schlossarek S, Mourot-Filiatre J, Stoehr A, Dutsch A, Wijnker PJM, Braren I, Katus HA, M\u00fcller OJ, Voit T, Eschenhagen T, Carrier L. Mybpc3 gene therapy for neonatal cardiomyopathy enables long-term disease prevention in mice. Nat Commun. 2014;5(1):1\u201310.","journal-title":"Nat Commun"},{"issue":"4","key":"1977_CR13","doi-asserted-by":"publisher","first-page":"254","DOI":"10.1159\/000339847","volume":"102","author":"N Marziliano","year":"2012","unstructured":"Marziliano N, Merlini PA, Vignati G, Orsini F, Motta V, Bandiera L, Intieri M, Veronese S. A case of compound mutations in the MYBPC3 gene associated with biventricular hypertrophy and neonatal death. Neonatology. 2012;102(4):254\u20138.","journal-title":"Neonatology"},{"key":"1977_CR14","doi-asserted-by":"publisher","first-page":"213","DOI":"10.1007\/s12181-014-0636-2","volume":"9","author":"E Schulze-Bahr","year":"2015","unstructured":"Schulze-Bahr E, Klaassen S, Abdul-Khaliq H, Schunkert H. Gendiagnostik bei kardiovaskul\u00e4ren Erkrankungen\u2014Positionspapier der Deutschen Gesellschaft f\u00fcr Kardiologie (DGK) und der Deutschen Gesellschaft f\u00fcr P\u00e4diatrische Kardiologie (DGPK). Kardiologe. 2015;9:213\u201343.","journal-title":"Kardiologe"}],"container-title":["BMC Cardiovascular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12872-021-01977-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12872-021-01977-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12872-021-01977-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,13]],"date-time":"2021-04-13T13:18:25Z","timestamp":1618319905000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmccardiovascdisord.biomedcentral.com\/articles\/10.1186\/s12872-021-01977-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,4,13]]},"references-count":14,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,12]]}},"alternative-id":["1977"],"URL":"https:\/\/doi.org\/10.1186\/s12872-021-01977-9","relation":{},"ISSN":["1471-2261"],"issn-type":[{"value":"1471-2261","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,4,13]]},"assertion":[{"value":"16 November 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 April 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 April 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The case report complies with the current German law.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from each family member resp. legal guardian for publication of this case report and any accompanying images. An anonymised copy of the written consent is available for review by the editor of this journal.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare to have no conflict of interest.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"174"}}